glycogen

A new research mouse may speed development of treatments for McArdle disease, and a conference this August will focus on several glycogen storage diseases

posted on July 5, 2012 - 6:00am

New research mouse mimics McArdle disease
Scientists in Spain have developed mice with a disorder that closely resembles the human metabolic muscle disorder known as McArdle disease (also called phosphorylase deficiency, myophosphorylase deficiency and glycogenosis type 5). The mice are expected to speed testing of treatments for this disorder.

Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition.
The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein...